Hemochromatosis Support Group

Hemochromatosis is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. It is the main iron overload disorder. Hemochromatosis is notorious for having symptoms that are often initially misattributed to other diseases.

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/ Hemochromatosis Support Group

New to the site - Have questions

jbelar
jbelar
My iron labs came back at 266 serum iron, 231 ferritin and 90% sat. That caused my doc to ask me to take the genetics test. I just got my results back and i am positive for homozygous c282y mutation. My liver tests are all normal. I just met with the hematologist today and he isn't recommending any treatment or action right now but to monitor my iron and liver levels once a year. Does that sound right? He thinks my genes were mutated instead of inherited. My doc asked me to have my immediate family get tested so they are. Does anyone have any feedback on this? The GI dept still wants to meet with me next week. I am not completely comfortable with his conclusion and have read ferritin levels should be below 150 and sat below 40%. As I have done a lot of research, I wondered what everyones experience has been with their doctors.
Michael2813
Michael2813
When I have used them I got two test done. the first test was iron and TIBC( this will give you also the iron saturation percentage) and ferritin. THese test cost me $48.00 You might try fasting before the blood draw as I understand it can effect the blood iron concentration.

I encourage you to keep working with a doctor, just find one that listens to you and you are comfortable with.
jbelar
jbelar
Thanks! Oh, these docs have no idea who they are dealing with. lol I am analytical by nature and I have researched a ton. Joining this group was just another way for me to educate myself, and, of course, have support. I am on it and refuse to wait until I have issues. I was so lucky to find it now, by chance. Why ruin that.
bronxpreston
bronxpreston
Ditto what all has been said here. I would add a complete blood count (CBC) to the labs.
deleted_user
deleted_user
MY REACTION TO MY HEMOTOLOGIST IS HE DOES NOT KNOW MUCH ABOUT THIS DISEASE, I ALSO HAVE RECENTLY BEEN DIAGNOSED WITH HH AND HAVE ONE PHLEB. AND A BLOOD TEST AFTER BY DOCTORS OFFICE AND HAD TO CALL THEM TO ASK FOR RESULTS . I AM ALSO LEARNING ALL I CAN AND SURE LEARNING ALOT FROM ALL YOU GUYS FROM THIS GROUP, CAN"T THANK U ENOUGH :)
deleted_user
deleted_user
I am new to this wonder site as well.This groupm is so helpful. My son was just diagnosed- Our Family Doctor was the one who found the levels off and sent him to a GI Doctor he did many tests and a liver biopsy. He still couldn't come up with a positive diagnosis- he suspected hemochromatosis-because he said he had one gene and it mutated. I wasn't satisfyed,so we asked him to refer us for a second opinion- We went to the University of Pa Medical center. There is where we got the daignosis- But so many questions were left unanswered.Good luck to you.
deleted_user
deleted_user
By the wasy- Red Cross wouldn't take my sons blood- I needed to find a bank that would willingly take it for a 4 week series,as he is going to school in Savannah,GA
jbelar
jbelar
Doc says I am not expected to have any symptoms from hemochromatosis (You do not have the disease, just molecular finding).

This is my DNA test below:

Result
The analysis revealed that this patient is homozygous for the
C282Y mutation within the HFE gene.


INTERPRETATION
Positive for two severe mutations (homozygous for C282Y)
within the HFE gene. This individual is homozygous for the
severe HFE mutation. This result may be associated with
hereditary hemochromatosis (HH), but since only a minority
of individuals with this result develop clinical
signs/symptoms of iron overload, it does not necessarily
confer the clinical diagnosis of HH. Relevant clinical
information and iron studies are required for accurate
interpretation.

Any feedback?
deleted_user
deleted_user
http://www.irondisorders.org/classic-hemochromatosis - check out this link for "classic" hemochromatosis. I copied and pasted what they (Iron Disorders Institute) has to say about a homozygote: "When any two of these variations are inherited, the risk for iron overload disease and its consequences increases, but inheriting 2 copies of the C282Y mutation appears to present the greatest risk." I guess that would be my feedback. If you read further in the paragraph, it talks about the possibility of organ damage starting long before you notice symptoms of HH. Has your doctor ever treated anyone with HH?
deleted_user
deleted_user
Hi there...if you are positive for the c282y mutation, then you need a phlebotomy right away to get your iron levels down. This doctor should know what normal iron levels are, but it doesn't sound like they are ready to treat you. I have a fact sheet included in my blog here: http://theburnedhand.wordpress.com/tag/hereditary-hemochromatosis/
And I also talk about my struggle with the doctors out there. I have found very few doctors in the last 14 years who are up to date on the latest research (primary care and others). My hematologist listens to me because I know when I need a pint taken. Keep researching all the time!!
jbelar
jbelar
Went to Gastroenterologist today and was pleasantly suprised at how great she was. She is sending me in for an ultrasound next week and wants to begin a management plan asap. I gave blood last Saturday and got my iron labs today. She wants to establish a trend but, so far, no symptoms or damage as they can see.